UniProtKB/Swiss-Prot P41597: Variant p.Phe316Leu

C-C chemokine receptor type 2
Gene: CCR2
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Variant information Variant position:

316 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Phenylalanine (F) to Leucine (L) at position 316 (F316L, p.Phe316Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from large size and aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Variations in CCR2 are associated with relative resistance to immunodeficiency virus type 1 (resistance to HIV-1) [MIM:609423]. Additional information on the polymorphism described.
Variant description:

No effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs140816549 [ dbSNP | Ensembl ]

Sequence information Variant position:

316 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

374 The length of the canonical sequence.
Location on the sequence:

THCCINPIIYAFVGEKFRSL F HIALGCRIAPLQKPVCGGPG The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         THCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPG

Rhesus macaque                THCCINPIIYAFVGEKFRRYLSMFFRKYIT---KRFC----

Mouse                         THCCINPVIYAFVGEKFRRYLSIFFRKHIA---KRLC----

Rat                           THCCVNPIIYAFVGEKFRRYLSIFFRKHIA---KNLC----

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 374	C-C chemokine receptor type 2
Topological domain	310 – 374	Cytoplasmic
Alternative sequence	314 – 374	SLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA -> RYLSVFFRKHITKRFCKQCPVFYRETVDGVTSTNTPSTGEQEVSAGL. In isoform B.
Helix	310 – 318

Literature citations
Human inherited CCR2 deficiency underlies progressive polycystic lung disease.
Neehus A.L.; Carey B.; Landekic M.; Panikulam P.; Deutsch G.; Ogishi M.; Arango-Franco C.A.; Philippot Q.; Modaresi M.; Mohammadzadeh I.; Corcini Berndt M.; Rinchai D.; Le Voyer T.; Rosain J.; Momenilandi M.; Martin-Fernandez M.; Khan T.; Bohlen J.; Han J.E.; Deslys A.; Bernard M.; Gajardo-Carrasco T.; Soudee C.; Le Floc'h C.; Migaud M.; Seeleuthner Y.; Jang M.S.; Nikolouli E.; Seyedpour S.; Begueret H.; Emile J.F.; Le Guen P.; Tavazzi G.; Colombo C.N.J.; Marzani F.C.; Angelini M.; Trespidi F.; Ghirardello S.; Alipour N.; Molitor A.; Carapito R.; Mazloomrezaei M.; Rokni-Zadeh H.; Changi-Ashtiani M.; Brouzes C.; Vargas P.; Borghesi A.; Lachmann N.; Bahram S.; Crestani B.; Pahari S.; Schlesinger L.S.; Marr N.; Bugonovic D.; Boisson-Dupuis S.; Beziat V.; Abel L.; Borie R.; Young L.R.; Deterding R.; Shahrooei M.; Rezaei N.; Parvaneh N.; Craven D.; Gros P.; Malo D.; Sepulveda F.E.; Nogee L.M.; Aladjidi N.; Trapnell B.C.; Casanova J.L.; Bustamante J.;
Cell 187:390-408(2024)
Cited for: INVOLVEMENT IN PCLUD; VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS PCLUD ARG-61; ARG-119; 214-PRO-LEU-215 DEL AND ASN-296; VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355; CHARACTERIZATION OF VARIANTS ILE-64; PHE-133; LEU-316 AND ASP-355;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.